256520.4

Saudi Arabia

Neonatal death; Polyhydramnios; Microcephaly; Generalized edema; Proptosis; Fetal akinesia sequence; Flexion contracture;

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_006623.4:c.418G>A	2		Neu-Laxova Syndrome 1